Variant report

Variant	rs13405116
Chromosome Location	chr2:179739483-179739484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4894054	1.00[JPT][hapmap]
rs4894058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716304	1.00[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
2	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:179728200-179753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:179728800-179739600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:179729200-179749000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:179729400-179753600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:179729600-179747200	Weak transcription	Adipose Nuclei	Adipose
10	chr2:179730600-179739600	Weak transcription	Right Atrium	heart
11	chr2:179730600-179745800	Weak transcription	NHLF	lung
12	chr2:179730600-179749000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:179730800-179745200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:179730800-179750600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:179730800-179756000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:179732000-179745200	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:179733800-179754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:179735400-179760800	Weak transcription	Right Ventricle	heart
21	chr2:179736600-179739600	Weak transcription	Fetal Heart	heart
22	chr2:179737000-179744400	Weak transcription	HSMMtube	muscle
23	chr2:179737000-179747400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:179737200-179749000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:179737400-179741200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:179737800-179744400	Weak transcription	Primary T cells from cord blood	blood
27	chr2:179738200-179742600	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr2:179738200-179743000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr2:179738400-179739600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:179738400-179739600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:179738400-179739800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:179738400-179739800	Enhancers	NHEK	skin
33	chr2:179738600-179739600	Active TSS	Psoas Muscle	Psoas
34	chr2:179738800-179739800	Enhancers	HMEC	breast
35	chr2:179739200-179739600	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr2:179739200-179739600	Enhancers	Brain Substantia Nigra	brain
37	chr2:179739200-179739600	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:179739200-179739800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:179739200-179739800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:179739400-179739600	Flanking Active TSS	Pancreas	Pancrea
41	chr2:179739400-179739800	Enhancers	Aorta	Aorta
42	chr2:179739400-179739800	Enhancers	HSMM	muscle
43	chr2:179739400-179740000	Active TSS	Brain Anterior Caudate	brain
44	chr2:179739400-179740000	Flanking Active TSS	Ovary	ovary
45	chr2:179739400-179740400	Enhancers	Left Ventricle	heart
46	chr2:179739400-179740600	Enhancers	Brain Germinal Matrix	brain
47	chr2:179739400-179741600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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